Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954841_86954842delinsC , CM000673.2:g.86954841_86954842delinsC | GRCh38 |
| NC_000011.9:g.86665883_86665884delinsC , CM000673.1:g.86665883_86665884delinsC | GRCh37 |
| NC_000011.8:g.86343531_86343532delinsC | NCBI36 |
| NG_011752.1:g.5550_5551delinsG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.244_245delinsG MANE Select | ENSP00000434034.1:p.Phe82AlafsTer? | |
| ENST00000531380.1:c.244_245delinsG | ENSP00000434034.1:p.Phe82AlafsTer? | |
| NM_012193.3:c.244_245delinsG | NP_036325.2:p.Phe82AlafsTer? | |
| NM_012193.4:c.244_245delinsG MANE Select | NP_036325.2:p.Phe82AlafsTer? |